Canonical Allele Identifier: CA2675415946

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137627919-GAACCAAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137627920_137627927del , CM000667.2:g.137627920_137627927del	GRCh38
NC_000005.9:g.136963609_136963616del , CM000667.1:g.136963609_136963616del	GRCh37
NC_000005.8:g.136991508_136991515del	NCBI36
NG_032569.1:g.113164_113171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+370_1591+377del MANE Select	ENSP00000312397.4:n.1591+370_1591+377del
ENST00000309755.8:c.1591+370_1591+377del	ENSP00000312397.4:n.1591+370_1591+377del
ENST00000447439.6:n.1647+370_1647+377del
ENST00000504208.5:c.*475+370_*475+377del	ENSP00000423585.1:n.*475+370_*475+377del
ENST00000506491.5:c.1345+370_1345+377del	ENSP00000424828.1:n.1345+370_1345+377del
ENST00000506873.5:n.1114+370_1114+377del
ENST00000508657.5:c.1495+370_1495+377del	ENSP00000422099.1:n.1495+370_1495+377del
ENST00000509694.1:n.622+132_622+139del
NM_001257194.1:c.1495+370_1495+377del	NP_001244123.1:n.1495+370_1495+377del
NM_001257195.1:c.1345+370_1345+377del	NP_001244124.1:n.1345+370_1345+377del
NM_017415.2:c.1591+370_1591+377del	NP_059111.2:n.1591+370_1591+377del
NM_017415.3:c.1591+370_1591+377del MANE Select	NP_059111.2:n.1591+370_1591+377del
NM_001257195.2:c.1345+370_1345+377del	NP_001244124.1:n.1345+370_1345+377del